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Rare Disease Drug Pipeline and Clincial Trials

We understand that every scientific advancement counts when it comes to bringing new medicines to those in need. Of the 7,000 known rare diseases, less than 5% have an approved treatment option.1 This gap in care has spurred a sense of urgency—to find new, potentially life-changing approaches today.

 

Pfizer Rare Disease merges pioneering science with a deep understanding of the underlying disease pathology to deliver innovative treatments. With over three decades of experience in rare disease, our broad global rare disease portfolio aims to address the unmet medical needs across a number of therapeutic areas, including hematology, neurology, endocrinology, cardiology, and inherited metabolic diseases.

Work with Us

If you’re interested in collaborating with our Rare Disease research team and want to learn more about our work, visit our Rare Diseases Partnering page. We welcome the opportunity to discuss how we can work together. 

References:

1. Global Genes. Rare Facts. https://globalgenes.org/rare-facts/. Accessed February 10, 2020.

2. National Organization for Rare Disorders. Hemophilia B. https://rarediseases.org/rare-diseases/hemophilia-b/. Accessed February 10, 2020.

3. Franchini M, Mannucci P. Past, Present and Future of Hemophilia: A Narrative Review. Orphanet J Rare Dis. 2012;(7):24.

4. Ruberg FL, Berk JL. Transthyretin (TTR) cardiac amyloidosis. Circulation. 2012;126(10):1286-1300.

5. Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J of Rare Dis. 2013;(8):31.

6. Stewart M, Alvir J, Cicchetti M, et al. Characterizing the High Disease Burden of Transthyretin Amyloidosis for Patients and Caregivers. Neurol Ther. 2018;7(2):349-364.

7. Rapezzi C, Lorenzini M, Longhi S, et al. Cardiac amyloidosis: the great pretender. Heart Fail Rev. 2015;20(2):117-124.

8. Shirota Y, Iwata A, Ishiura H, et al. A case of atypical amyloid polyneuropathy with predominant upper-limb involvement with diagnosis unexpectedly found at lung operation. Intern Med. 2010;(49):1627-1631.

9. Pareyson D. Diagnosis of hereditary neuropathies in adult patients. Neurology. 2003;(250):148-160

10. Siddiqi OK, Ruberg FL. Cardiac amyloidosis: an update on pathophysiology, diagnosis and treatment. Trends Cardiovasc Med. 2017;1050-1738.

11. Swiecicki PL, Zhen DB, Mauermann ML, et al. Hereditary ATTR amyloidosis: a single-institution experience with 266 patients. Amyloid. 2015;22(2):123-131.

12. Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve. 2007;(36):411-423.

13. Hou X, Aguilar M-I, Small DH. Transthyretin and familial amyloidotic polyneuropathy: recent progress in understanding the molecular mechanism of neurodegeneration. FEBS J. 2007;(274):1637-1650.

14. NIH National Human Genome Research Institute. About Duchenne Muscular Dystrophy. https://www.genome.gov/Genetic-Disorders/Duchenne-Muscular-Dystrophy. Accessed February 10, 2020.

15. National Organization for Rare Disorders. Duchenne Muscular Dystrophy. https://rarediseases.org/rare-diseases/duchenne-muscular-dystrophy/. Accessed February 10, 2020.